Literature DB >> 2122104

A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.

R J Wanders1, C W van Roermund, A Schelen, R B Schutgens, J M Tager, J B Stephenson, P T Clayton.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 2122104     DOI： 10.1007/bf01799399

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  4 in total

Review 1.  The inborn errors of peroxisomal beta-oxidation: a review.

Authors:  R J Wanders; C W van Roermund; R B Schutgens; P G Barth; H S Heymans; H van den Bosch; J M Tager
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.

Authors:  P T Clayton; B D Lake; M Hjelm; J B Stephenson; G T Besley; R J Wanders; A W Schram; J M Tager; R B Schutgens; A M Lawson
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Peroxisomal bifunctional enzyme deficiency.

Authors:  P A Watkins; W W Chen; C J Harris; G Hoefler; S Hoefler; D C Blake; A Balfe; R I Kelley; A B Moser; M E Beard
Journal:  J Clin Invest       Date:  1989-03       Impact factor: 14.808

4.  Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.

Authors:  S Naidu; G Hoefler; P A Watkins; W W Chen; A B Moser; S Hoefler; N E Rance; J M Powers; M Beard; W R Green
Journal:  Neurology       Date:  1988-07       Impact factor: 9.910
  4 in total
  14 in total

1.  Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids.

Authors:  H Mandel; M Berant; A Aizin; R Gershony; S Hemmli; R B Schutgens; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.

Authors:  Y Suzuki; L L Jiang; M Souri; S Miyazawa; S Fukuda; Z Zhang; M Une; N Shimozawa; N Kondo; T Orii; T Hashimoto
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

3.  Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency.

Authors:  H J ten Brink; R J Wanders; F Stellaard; R B Schutgens; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 4.  The role of histochemical investigations in metabolic disorders affecting the liver.

Authors:  B D Lake
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

5.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.

Authors:  R J Wanders; L Ijlst; M Duran; C Jakobs; J B de Klerk; H Przyrembel; F Rocchiccioli; P Aubourg
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

6.  The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.

Authors:  P A Leegwater; A A Könst; B Kuyt; L A Sandkuijl; S Naidu; C B Oudejans; R B Schutgens; J C Pronk; M S van der Knaap
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

7.  Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.

Authors:  R J Wanders; R Ofman; G J Romeijn; R B Schutgens; P A Mooijer; C Dekker; H van den Bosch
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

8.  Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.

Authors:  R J Wanders; S Denis; J P Ruiter; R B Schutgens; C W van Roermund; B S Jacobs
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

9.  Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.

Authors:  R Santer; A Claviez; H D Oldigs; J Schaub; R B Schutgens; R J Wanders
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

10.  Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.

Authors:  Y Suzuki; N Shimozawa; S Yajima; S Tomatsu; N Kondo; Y Nakada; S Akaboshi; M Lai; Y Tanabe; T Hashimoto
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.